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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LIFR
LIF receptor subunit alpha
Chromosome 5 · 5p13.1
NCBI Gene: 3977Ensembl: ENSG00000113594.11HGNC: HGNC:6597UniProt: A8K1Z4
134PubMed Papers
21Diseases
0Drugs
172Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of cell population proliferationcytokine-mediated signaling pathwayciliary neurotrophic factor receptor activityleukemia inhibitory factor receptor activityStüve-Wiedemann syndrome 1Stuve-Wiedemann syndromecongenital anomaly of kidney and urinary tractcongenital hydronephrosis
✦AI Summary

LIFR (LIF receptor subunit alpha) is a cytokine receptor that functions as a signal-transducing molecule in the JAK/STAT3 pathway 1. It acts as a coreceptor that binds leukemia inhibitory factor (LIF) and oncostatin M (OSM) in complex with GP130, triggering downstream signaling cascades including MAPK, AKT, and mTOR activation 2. LIFR regulates cell proliferation, differentiation, and immune cell modulation within tumor microenvironments 3. In cancer, LIFR exhibits context-dependent roles. In solid tumors and glioblastoma, LIF/LIFR overexpression drives tumor growth, progression, metastasis, and therapy resistance through JAK/STAT3 activation, promoting cancer stemness via SOX2 transcription 42. Conversely, LIFR downregulation in hepatocellular carcinoma and breast cancer appears oncogenic, promoting tumorigenesis through NF-κB pathway activation and ferroptosis resistance 56. LIFR promoter methylation frequently silences LIFR expression in breast cancer, correlating with poor prognosis 6. Clinically, LIFR mutations cause Stüve-Wiedemann syndrome, an autosomal recessive bent-bone dysplasia with respiratory complications 1. Therapeutic approaches include targeting LIF/LIFR signaling with monoclonal antibodies and receptor inhibitors in cancer, with clinical trials ongoing 2.

Sources cited
1
LIF/LIFR activate JAK/STAT3, MAPK, AKT, mTOR pathways; overexpression associated with tumor growth, metastasis, stemness, therapy resistance, and poorer survival
PMID: 35685476
2
OSM-LIFR-GP130 interaction activates STAT3 in glioblastoma cells, promoting mesenchymal transition mediated by macrophages
PMID: 34087162
3
Loss of LIFR in hepatocellular carcinoma activates NF-κB signaling and promotes ferroptosis resistance through LCN2 upregulation
PMID: 34921145
4
LIF-super-enhancer drives LIF/LIFR-STAT3-SOX2 feedback loop maintaining cancer stemness in head and neck squamous cell carcinoma
PMID: 39206755
5
Null LIFR mutations cause Stüve-Wiedemann syndrome through impaired JAK/STAT3 signaling; autosomal recessive inheritance
PMID: 24618404
6
SNORA28 increases LIFR transcription via H3K9 acetylation, activating JAK1/STAT3 pathway in colorectal cancer radioresistance
PMID: 38924373
7
LIFR functions as tumor and metastatic suppressor in breast cancer; frequent promoter methylation silences expression in 80.95% of methylated cases
PMID: 31557600
Disease Associationsⓘ21
Stüve-Wiedemann syndrome 1Open Targets
0.79Strong
Stuve-Wiedemann syndromeOpen Targets
0.65Moderate
congenital anomaly of kidney and urinary tractOpen Targets
0.49Moderate
congenital hydronephrosisOpen Targets
0.41Moderate
osteoarthritis, kneeOpen Targets
0.40Weak
salivary gland adenoid cystic carcinomaOpen Targets
0.37Weak
Salivary Gland Pleomorphic AdenomaOpen Targets
0.37Weak
medical procedureOpen Targets
0.32Weak
joint diseaseOpen Targets
0.32Weak
essential hypertensionOpen Targets
0.29Weak
hypertensionOpen Targets
0.28Weak
lipoblastomaOpen Targets
0.28Weak
Parotid Gland Pleomorphic AdenomaOpen Targets
0.28Weak
Salivary Gland Carcinoma ex Pleomorphic AdenomaOpen Targets
0.28Weak
salivary gland mucoepidermoid carcinomaOpen Targets
0.28Weak
venous thromboembolismOpen Targets
0.27Weak
ulcerative colitisOpen Targets
0.26Weak
small cell lung carcinomaOpen Targets
0.22Weak
melanomaOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.21Weak
Stuve-Wiedemann syndrome 1UniProt
Pathogenic Variants172
NM_001127671.2(LIFR):c.992-3_992-2delLikely pathogenic
Stüve-Wiedemann syndrome 1|Stuve-Wiedemann syndrome|not provided
★★☆☆2026
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs)Pathogenic
not provided|Stüve-Wiedemann syndrome 1|Stuve-Wiedemann syndrome
★★☆☆2026→ Residue 160
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter)Pathogenic
Stuve-Wiedemann syndrome|not provided|Stüve-Wiedemann syndrome 1
★★☆☆2025→ Residue 692
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)Pathogenic
not provided|Stuve-Wiedemann syndrome|Stüve-Wiedemann syndrome 1
★★☆☆2025→ Residue 418
NM_001127671.2(LIFR):c.1337C>G (p.Ser446Ter)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025→ Residue 446
NM_001127671.2(LIFR):c.2387_2388del (p.Leu796fs)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025→ Residue 796
NM_001127671.2(LIFR):c.2472_2476del (p.Ser824fs)Pathogenic
Stüve-Wiedemann syndrome 1
★★☆☆2025→ Residue 824
NM_001127671.2(LIFR):c.2013dup (p.Met672fs)Pathogenic
Stuve-Wiedemann syndrome|not provided
★★☆☆2025→ Residue 672
NM_001127671.2(LIFR):c.562-2A>CLikely pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025
NM_001127671.2(LIFR):c.704G>A (p.Trp235Ter)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025→ Residue 235
NM_001127671.2(LIFR):c.1231_1234del (p.Asn411fs)Pathogenic
not provided|Stüve-Wiedemann syndrome 1|Stuve-Wiedemann syndrome
★★☆☆2025→ Residue 411
NM_001127671.2(LIFR):c.258-2A>CLikely pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)Pathogenic
not provided|Stuve-Wiedemann syndrome|Stüve-Wiedemann syndrome 1
★★☆☆2025→ Residue 253
NM_001127671.2(LIFR):c.653dup (p.Glu219fs)Pathogenic
Stuve-Wiedemann syndrome|not provided|Stüve-Wiedemann syndrome 1
★★☆☆2025→ Residue 219
NM_001127671.2(LIFR):c.1671+1G>TLikely pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025
NM_001127671.2(LIFR):c.2509_2512del (p.Ile837fs)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2025→ Residue 837
NM_001127671.2(LIFR):c.2464G>T (p.Glu822Ter)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2024→ Residue 822
NM_001127671.2(LIFR):c.254del (p.Asn85fs)Pathogenic
not provided|Stüve-Wiedemann syndrome 1
★★☆☆2024→ Residue 85
NM_001127671.2(LIFR):c.2351_2357del (p.Lys784fs)Pathogenic
not provided|Stuve-Wiedemann syndrome
★★☆☆2024→ Residue 784
NM_001127671.2(LIFR):c.1121+1G>ALikely pathogenic
not provided|Stüve-Wiedemann syndrome 1
★★☆☆2024
View on ClinVar ↗
Related Genes
CNTFProtein interaction100%CTF1Protein interaction100%IL6Protein interaction100%IL11Protein interaction100%LIFProtein interaction100%PIK3R3Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
88%
Brain
83%
Lung
76%
Liver
48%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LIFRCNTFCTF1IL6IL11LIFPIK3R3
PROTEIN STRUCTURE
Preparing viewer…
PDB8D74 · 3.03 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.63 [0.50–0.80]
RankingsWhere LIFR stands among ~20K protein-coding genes
  • #3,459of 20,598
    Most Researched134 · top quartile
  • #429of 5,498
    Most Pathogenic Variants172 · top 10%
  • #6,627of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedLIFR
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Targeting LIF/LIFR signaling in cancer.
PMID: 35685476
Genes Dis · 2022
1.00
2
Interactions between cancer cells and immune cells drive transitions to mesenchymal-like states in glioblastoma.
PMID: 34087162
Cancer Cell · 2021
0.90
3
A targetable LIFR-NF-κB-LCN2 axis controls liver tumorigenesis and vulnerability to ferroptosis.
PMID: 34921145
Nat Commun · 2021
0.80
4
Super-Enhancer Driven LIF/LIFR-STAT3-SOX2 Regulatory Feedback Loop Promotes Cancer Stemness in Head and Neck Squamous Cell Carcinoma.
PMID: 39206755
Adv Sci (Weinh) · 2024
0.70
5
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
PMID: 24618404
Orphanet J Rare Dis · 2014
0.60